Katalog der Deutschen Nationalbibliothek

Ergebnis der Suche nach: "11276925X"
im Bestand: Gesamter Bestand

101 - 110 von 110

	101	Integrative bioinformatics analysis characterizing the role of EDC3 in mRNA decay and its association to intellectual disability Enthalten in BMC medical genomics Bd. 11, 23.4.2018, Nr. 1, date:12.2018: 1-11
	102	Mutation in the gene encoding lysosomal acid phosphatase (Acp2) causes cerebellum and skin malformation in mouse Enthalten in Neurogenetics Bd. 5, 22.10.2004, Nr. 4, date:12.2004: 229-238
	103	Need for high-resolution Genetic Analysis in iPSC: Results and Lessons from the ForIPS Consortium Enthalten in Scientific reports Bd. 8, 21.11.2018, Nr. 1, date:12.2018: 1-14
	104	Prevalence of hereditary tubulointerstitial kidney diseases in the German Chronic Kidney Disease study Enthalten in European journal of human genetics Bd. 30, 13.9.2022, Nr. 12, date:12.2022: 1413-1422
	105	Single molecule real time sequencing in ADTKD-MUC1 allows complete assembly of the VNTR and exact positioning of causative mutations Enthalten in Scientific reports Bd. 8, 8.3.2018, Nr. 1, date:12.2018: 1-12
	106	SPATA5 mutations cause a distinct autosomal recessive phenotype of intellectual disability, hypotonia and hearing loss Enthalten in Orphanet journal of rare diseases Bd. 11, 29.9.2016, Nr. 1, date:12.2016: 1-7
	107	The Clinical Data Intelligence Project Enthalten in Informatik-Spektrum Bd. 39, 4.8.2015, Nr. 4, date:8.2016: 290-300
	108	The missing link: ARID1B non-truncating variants causing Coffin-Siris syndrome due to protein aggregation Enthalten in Human genetics Bd. 143, 19.7.2024, Nr. 8, date:8.2024: 965-978
	109	The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy Enthalten in Orphanet journal of rare diseases Bd. 14, 11.2.2019, Nr. 1, date:12.2019: 1-13
	110	The recurrent missense mutation p.(Arg367Trp) in YARS1 causes a distinct neurodevelopmental phenotype Enthalten in Journal of molecular medicine Bd. 99, 18.9.2021, Nr. 12, date:12.2021: 1755-1768

101 - 110 von 110

Alle Materialarten > Artikel (110)

Alle Standorte

Aktionen